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Genetics of Retinitis Pigmentosa and Other Hereditary Retinal Disorders in Western Switzerland.

Ophthalmic research - 1 Jan 2024

Conti Giovanni Marco, Vaclavik Veronika, Rivolta Carlo, Escher Pascal, Schorderet Daniel Francis, Munier Francis L, Tran Hoai Viet

Abstract excerpt

INTRODUCTION: Mutational screening of inherited retinal disorders is prerequisite for gene targeted therapy. Our aim was to report and analyze the proportions of mutations in inherited retinal disease (IRD)-causing genes from a single center in Switzerland in order to describe the distribution of IRDs in Western Switzerland. METHODS: We conducted a retrospective study of patient records. Criteria for inclusion...

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Child, Preschool
DNA Mutational Analysis
Eye Proteins
Genetic Testing
Infant

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Retinitis Pigmentosa

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PMID: 38160664
DOI: 10.1159/000536036

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